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GENETICS
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Mge10-014 | Gene Portals: A Framework for Integrating Clinical, Functional, and Structural Evidence into Rare Disease Variant Classification |
| Quote: | By organizing evidence that is otherwise dispersed across multiple sources into a unified, queryable framework, the SCN, GRIN, CACNA1A, SATB2 and SLC6A1 Gene Portals became widely used community resources and provide an extensible template for standardized rare-disease variant interpretation and mechanism-aware discovery.
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| Abstract:
| https://www.medrxiv.org/content/10.64898/2026.03.05.26347086v1 |
| Full Text:
| https://www.medrxiv.org/content/10.64898/2026.03.05.26347086v1.full-text |
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Tobias Brnger Ilona Krey Suyeon Kim Chiara Klckner Scott J Myers Katrine M. Johannesen Arthur Stefanski Gary Taylor Eduardo Perez-Palma Marie Macnee Stephanie Schorge Rebekka S Dahl Hongjie Yuan Riley E. Perszyk Sukhan Kim Sunanjay Bajaj Ingo Helbig Jen Q. Pan Mark Farrant Lonnie Wollmuth David J. A. Wyllie Erkin Kurganov David Baez Sameer Zuberi Christian M Boelmann Holger Lerche Massimo Mantegazza Sandrine Cestle Patrick May Alina Ivaniuk Mary Anne Meskis Veronica Hood Leah Schust Kimberly Goodspeed Jing-Qiong Kang Amber Freed Cornelius Gati Ludovica Montanucci Arthur Wuster Marena Trinidad Steven Froelich Alexander T. Deng ngel Aledo-Serrano Artem Borovikov Artem Sharkov Arjan Bouman MJ Hajianpour Deb K Pal Leslie Danvoye Damien Lederer Tugce R. Balci Eveline E O Hagebeuk Alexis Heidlebaugh Kathryn Oetjens Trevor L Hoffman Pasquale Striano Sarah Drewes Williams Kalene van Engelen Katherine B. Howell Jean Khoury Tim A Benke Vincent Strehlow Konrad Platzer Amy Ramsey Lisa Manaster Sunitha Malepati Pangkong Fox Jeffrey Noebels Wendy Chung Annapurna Poduri Laina Lusk Stripe Sarah M. Ruggiero Stacey Cohen Lacey Smith Sylvia Boesch Olivia Wilmarth Anna Jenne Prentice Esther Cha Nikita Budnik Marina P. Hommersom Audra Kramer Carlos G. Vanoye Guo-Qiang Zhang Michael Nothnagel Aarno Palotie Mark J. Daly Alfred L. George span classnlm-suffixJr. Yuri A. Zarate Andreas Brunklaus Stephen F Traynelis Rikke S Mller Johannes R. Lemke Dennis Lal,
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GENETICS
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Mge10-032 | Characterising the motif composition and allele length distribution of ZFHX3 GGC repeat expansions in amyotrophic lateral sclerosis |
| Abstract:
| https://www.medrxiv.org/content/10.64898/2026.03.09.26347973v1 |
| Full Text:
| https://www.medrxiv.org/content/10.64898/2026.03.09.26347973v1.full-text |
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Zoe N. Zussa Andrew N. Smith Joke J.F.A van Vugt Daniel S. OShaughnessy Natalie Grima Sandrine Chan Moi Fat Ian P. Blair Dominic B Rowe Roger Pamphlett Garth A. Nicholson Matthew C.K Kiernan Wouter van Rheenen Jan Veldink span classnlm-collab data-hwp-idcollab-1Project MinE ALS sequencing consortium Kelly L. Williams Lyndal Henden,
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GENETICS
LUNGS
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Min10-014 | Novel Genetic Locus Associated with Resistance to M. tuberculosis Infection: A Multi-Ancestry Genome-Wide Association Study |
| Abstract:
| https://www.medrxiv.org/content/10.64898/2026.03.06.26347614v1 |
| Full Text:
| https://www.medrxiv.org/content/10.64898/2026.03.06.26347614v1.full-text |
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Neel R. Gandhi Matheus Fernandes Gyorfy Mandar Paradkar Nombuyiselo Jennet Mofokeng Marina C. Figueiredo Senbagavalli Prakash Kamakshi Prudhula Devalraju Qin Hui Fay Willis Vidya Mave Bruno B. Andrade Tumelo Moloantoa Venkata Sanjeev Kumar Neela Angela Campbell Chang Liu Alexandra Young Marcelo Cordeiro-dos-Santos Sanjay Gaikwad Rajesh Karyakarte Valeria C. Rolla Afranio L. Kritski Jeffrey M. Collins N. Sarita Shah James C.M. Brust Vijaya Lakshmi Valluri Sonali Sarkar Timothy R. Sterling Neil A. Martinson Amita Gupta Yan V. Sun,
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AGING
GENETICS
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Mpt10-004 | Identifying Single-Nucleotide Polymorphisms Intersecting Alzheimers Disease Pathology and End-of-Life Traits Using Genomic Informational Field Theory GIFT |
| Quote: | These results demonstrate that rethinking analytical representation, rather than solely increasing sample size, can expand discovery potential of genetic association studies, offering a transparent and complementary framework for quantitative genomics in deeply phenotyped datasets.
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| Abstract:
| https://www.medrxiv.org/content/10.64898/2026.03.05.26347710v1 |
| Full Text:
| https://www.medrxiv.org/content/10.64898/2026.03.05.26347710v1.full-text |
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Sam Heysmond Panagiota Kyratzi Jonathan Wattis Andras Paldi Keeley J Brookes Karim Kreft Beili Shao Cyril Rauch,
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GENETICS
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Mrh10-022 | Methylation Risk Score Identifies an Interferon-Driven SLE Subset Distinct from Polygenic Risk |
| Quote: | Conclusion The MRS defines an interferon-high, HLA-DRB1*03:01-linked SLE subset with multiple autoantibodies, partly distinct from PRS-associated nephritis risk, highlighting potentially divergent pathogenic pathways. These findings underscore the value of integrating genetic and epigenetic data to better understand underlying disease mechanisms in SLE.
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| Abstract:
| https://www.medrxiv.org/content/10.64898/2026.03.10.26348007v1 |
| Full Text:
| https://www.medrxiv.org/content/10.64898/2026.03.10.26348007v1.full-text |
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Holme Vestin Nina Oparina Maija-Leena Eloranta Elisabeth Skoglund Ioanna Giannakou Martina Frodlund Iva Gunnarsson Christopher Sjowall Elisabet Svenungsson Lars Ronnblom Juliana Imgenberg-Kreuz Dag Leonard,
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